Hydrocephalus

Gene: ICK

Amber List (moderate evidence)

ICK (intestinal cell kinase)
EnsemblGeneIds (GRCh38): ENSG00000112144
EnsemblGeneIds (GRCh37): ENSG00000112144
OMIM: 612325, Gene2Phenotype
ICK is in 11 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ICK is CILK1
Created: 25 Sep 2019, 10:03 a.m. | Last Modified: 25 Sep 2019, 10:03 a.m.
Panel Version: 1.37

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

Helen Brittain (Genomics England Curator)

I don't know

Comment when marking as ready: Only a single missense mutation reported in two Amish families to date.
Created: 30 May 2017, 8 a.m.
Comment on mode of inheritance: Original review by me had erroneous MOI. Corrected.
Created: 30 May 2017, 7:59 a.m.
Comment on list classification: Two unrelated families to date. From a founder population with the same mutation.
Created: 30 May 2017, 7:59 a.m.
Only two families to date. Relevant phenotype. Watchlist.
Created: 30 May 2017, 7:57 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Endocrine-cerebroosteodysplasia 612651

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Endocrine-cerebroosteodysplasia 612651
Tags
watchlist new-gene-name
OMIM
612325
Clinvar variants
Variants in ICK
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

25 Sep 2019, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag new-gene-name tag was added to gene: ICK.

29 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ICK.

31 May 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

30 May 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

30 May 2017, Gel status: 2

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for ICK was changed to BIALLELIC, autosomal or pseudoautosomal

30 May 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

30 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

ICK was added to Hydrocephaluspanel. Sources: Literature

30 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

ICK was created by helen.brittain